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Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
Traversa, Alice; Bernardo, Silvia; Paiardini, Alessandro; Giovannetti, Agnese; Marchionni, Enrica; Genovesi, Maria Luce; Guadagnolo, Daniele; Torres, Barbara; Paolacci, Stefano; Bernardini, Laura; Mazza, Tommaso; Carella, Massimo; Caputo, Viviana; Pizzuti, Antonio.
Affiliation
  • Traversa A; Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratory of Clinical Genomics, San Giovanni Rotondo (FG), Italy.
  • Bernardo S; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Paiardini A; Department of Biochemical Sciences "A. Rossi Fanelli", Sapienza University of Rome, Rome, Italy.
  • Giovannetti A; Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratory of Clinical Genomics, San Giovanni Rotondo (FG), Italy.
  • Marchionni E; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Genovesi ML; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Guadagnolo D; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Torres B; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Paolacci S; Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratory of Cytogenetics, San Giovanni Rotondo (FG), Italy.
  • Bernardini L; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Mazza T; Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratory of Cytogenetics, San Giovanni Rotondo (FG), Italy.
  • Carella M; Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratory of Bioinformatics, San Giovanni Rotondo (FG), Italy.
  • Caputo V; Fondazione IRCCS Casa Sollievo della Sofferenza, Laboratory of Medical Genetics, San Giovanni Rotondo (FG), Italy.
  • Pizzuti A; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Mol Genet Genomic Med ; 8(1): e1054, 2020 01.
Article in En | MEDLINE | ID: mdl-31756055
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Dandy-Walker Syndrome / Exome Sequencing / Membrane Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Pregnancy Language: En Journal: Mol Genet Genomic Med Year: 2020 Type: Article Affiliation country: Italy
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Dandy-Walker Syndrome / Exome Sequencing / Membrane Proteins Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Female / Humans / Pregnancy Language: En Journal: Mol Genet Genomic Med Year: 2020 Type: Article Affiliation country: Italy